ArticleOrphanet journal of rare diseases2020
Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC).
Article in Orphanet journal of rare diseases, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Cardiac comorbidities in McArdle disease: case report and systematic review.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2024Pooled it
- Low-carbohydrate ketogenic diet in Mc Ardle's disease: a single-blinded randomized controlled trial.Journal of neurology · 2025Trial
- Metabolic masqueraders of paediatric and adult rheumatic diseases.Nature reviews. Rheumatology · 2026Review
- An exercise intervention in children and young adults with McArdle disease: feasibility, acceptability, and clinical outcomes.Orphanet journal of rare diseases · 2026Article
- Cardiovascular involvement in glycogen storage diseases.Nature reviews. Cardiology · 2026Review
- Lived Experiences of Patients With Rare Diseases and Healthcare System Barriers: A Phenomenological Study.Journal of nursing management · 2026Article
- Article
- Article
- Mitochondrial Dysfunction in Glycogen Storage Disorders (GSDs).Biomolecules · 2024Review
- Toward an Understanding of GSD5 (McArdle disease): How Do Individuals Learn to Live with the Metabolic Defect in Daily Life.Journal of neuromuscular diseases · 2024Article
- Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation.Orphanet journal of rare diseases · 2023Article
- Glycogen storage diseases: An update.World journal of gastroenterology · 2023Review
- Review
- Patient-Reported Experiences with a Low-Carbohydrate Ketogenic Diet: An International Survey in Patients with McArdle Disease.Nutrients · 2023Article
- Low aerobic capacity in McArdle disease: A role for mitochondrial network impairment?Molecular metabolism · 2022Article
- Needs of people with rare diseases that can be supported by electronic resources: a scoping review.BMJ open · 2022Article
- Identification of Potential Muscle Biomarkers in McArdle Disease: Insights from Muscle Proteome Analysis.International journal of molecular sciences · 2022Article
- Review
- The Second Wind in McArdle Patients: Fitness Matters.Frontiers in physiology · 2021Article
- Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry).Orphanet journal of rare diseases · 2020Article
Corrections and comments
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Authors and funding
27 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC) was launched to register rare muscle glycogenoses in Europe, to facilitate recruitment for research trials and to learn about the phenotypes and disseminate knowledge about the diseases through workshops and websites. A network of twenty full and collaborating partners from eight European countries and the US contributed data on rare muscle glycogenosis in the EUROMAC registry. After approximately 3 years of data collection, the data in the registry was analysed.
resultsOf 282 patients with confirmed diagnoses of muscle glycogenosis, 269 had McArdle disease. New phenotypic features of McArdle disease were suggested, including a higher frequency (51.4%) of fixed weakness than reported before, normal CK values in a minority of patients (6.8%), ptosis in 8 patients, body mass index above background population and number of comorbidities with a higher frequency than in the background population (hypothyroidism, coronary heart disease).
conclusionsThe EUROMAC project and registry have provided insight into new phenotypic features of McArdle disease and the variety of co-comorbidities affecting people with McArdle disease. This should lead to better management of these disorders in the future, including controlling weight, and preventive screening for thyroid and coronary artery diseases, as well as physical examination with attention on occurrence of ptosis and fixed muscle weakness. Normal serum creatine kinase in a minority of patients stresses the need to not discard a diagnosis of McArdle disease even though creatine kinase is normal and episodes of myoglobinuria are absent.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.